67161 - Molecular and Genetics Basis of the Diseases with lab

Learning outcomes

Students will know advance information on nuclear processes relevant to DNA damage and repair, genome integrity, checkpoint activations and role of relevant proteins, and modern methodologies to investigate protein-DNA interactions in vivo. Students will know how disfunctions of the relevant genes and pathways can lead to chronic diseases such as cancer and neurodegenerative disorders.

Course contents

DNA damage and mutations. Base damage and damage to the sugar-phosphate backbone. DNA damage mechanisms: oxidation, alkylation and ionizing radiation. Chemical agents and antitumor drugs. 
Mechanisms of damaged base repair. Photlyase, nucleotide excision repair (NER), base excision repair (BER), mismatch repair. Genes and proteins involved in repair mechanisms and hereditary genetic diseases.
DNA cleavage repair: homologous recombination and non-homologous end-joining repair mechanisms. Repair of DNA-protein crosslinks.
DNA damage-activated checkpoint mechanisms. Kinase signalling: ATM/ATR and p53 functions.
Repair gene mutations and neurodegenerative diseases and cancer.
Oncogenes and tumor suppressor genes. Molecular pathways and neoplastic transformation.

The program for the practical laboratory will be the execution of experimental protocols of Chromatin Immunoprecipitation (ChIP), cell immunofluorescence and real-time PCR, and the interpretation of the data.

Readings/Bibliography

Text book: Capranico G, Martegani E, Musci G, Raugei G, Russo T, Zambrano N, Zappavigna V. Biologia molecolare, EdiSES (ultima edizione).

Moreover, I will distribute original scientific articles and reviews on the studied topic during the class.

At the start of the laboratory, a written protocol will be distributed for the execution of it.

Teaching methods

The course consists of lectures by the teacher and seminar of the students on specific topics. The teacher will stimulate the students in actively participating in discussions raising questions and expressing personal opinions. Each student will execute the experimental protocol individually and will be stimulated to compare his(her) own experience with other students. At the end of the laboratory, each student has to write a report of the experience.

Assessment methods

The exam will assess whether the student knows the mechanisms of genome integrity, and DNA damage and repair, which are at the basis of human syndromes and chronic diseases such as cancer and neurodegeneration.
The exam will also assess if the student is able to perfom a protocol of ChIP and real-time PCR.
The exam is divided in three parts: a) the seminar of the student during the course and the active participation at lectures; b) the written report at the end of the laboratory; c) an oral exam. The oral exam will consist of one question related to the program of the course and a brief discussion of the written report of the laboratory. 
The maximal score is 30/30.

Teaching tools

Power point presentations, PC and internet. The laboratory is fully equipped with instruments and reagents needed for ChIP and real-time PCR.

Links to further information

https://site.unibo.it/capranico-lab/en

Office hours

See the website of Giovanni Capranico